LOCUS       NM_001284278            2984 bp    mRNA    linear   PRI 21-SEP-2024
DEFINITION  Homo sapiens phosphatidylinositol transfer protein beta (PITPNB),
            transcript variant sp3, mRNA.
ACCESSION   NM_001284278 XM_005261453
VERSION     NM_001284278.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2984)
  AUTHORS   Haenig,C., Atias,N., Taylor,A.K., Mazza,A., Schaefer,M.H., Russ,J.,
            Riechers,S.P., Jain,S., Coughlin,M., Fontaine,J.F., Freibaum,B.D.,
            Brusendorf,L., Zenkner,M., Porras,P., Stroedicke,M., Schnoegl,S.,
            Arnsburg,K., Boeddrich,A., Pigazzini,L., Heutink,P., Taylor,J.P.,
            Kirstein,J., Andrade-Navarro,M.A., Sharan,R. and Wanker,E.E.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   2  (bases 1 to 2984)
  AUTHORS   Garner,K., Hunt,A.N., Koster,G., Somerharju,P., Groves,E., Li,M.,
            Raghu,P., Holic,R. and Cockcroft,S.
  TITLE     Phosphatidylinositol transfer protein, cytoplasmic 1 (PITPNC1)
            binds and transfers phosphatidic acid
  JOURNAL   J Biol Chem 287 (38), 32263-32276 (2012)
   PUBMED   22822086
REFERENCE   3  (bases 1 to 2984)
  AUTHORS   Carvou,N., Holic,R., Li,M., Futter,C., Skippen,A. and Cockcroft,S.
  TITLE     Phosphatidylinositol- and phosphatidylcholine-transfer activity of
            PITPbeta is essential for COPI-mediated retrograde transport from
            the Golgi to the endoplasmic reticulum
  JOURNAL   J Cell Sci 123 (Pt 8), 1262-1273 (2010)
   PUBMED   20332109
  REMARK    GeneRIF: Phosphatidylinositol and phosphatidylcholine exchange
            activity of PITPbeta is essential for COPI-mediated retrograde
            transport from the Golgi to the endoplasmic reticulum.
REFERENCE   4  (bases 1 to 2984)
  AUTHORS   Kim,W.K., Cho,H.J., Ryu,S.I., Hwang,H.R., Kim,D.H., Ryu,H.Y.,
            Chung,J.W., Kim,T.Y., Park,B.C., Bae,K.H., Ko,Y. and Lee,S.C.
  TITLE     Comparative proteomic analysis of peripheral blood mononuclear
            cells from atopic dermatitis patients and healthy donors
  JOURNAL   BMB Rep 41 (8), 597-603 (2008)
   PUBMED   18755076
REFERENCE   5  (bases 1 to 2984)
  AUTHORS   Morgan,C.P., Allen-Baume,V., Radulovic,M., Li,M., Skippen,A. and
            Cockcroft,S.
  TITLE     Differential expression of a C-terminal splice variant of
            phosphatidylinositol transfer protein beta lacking the
            constitutive-phosphorylated Ser262 that localizes to the Golgi
            compartment
  JOURNAL   Biochem J 398 (3), 411-421 (2006)
   PUBMED   16780419
  REMARK    GeneRIF: The presence of PITPbeta splice variants adds an extra
            level of proteome complexity
REFERENCE   6  (bases 1 to 2984)
  AUTHORS   Segui,B., Allen-Baume,V. and Cockcroft,S.
  TITLE     Phosphatidylinositol transfer protein beta displays minimal
            sphingomyelin transfer activity and is not required for
            biosynthesis and trafficking of sphingomyelin
  JOURNAL   Biochem J 366 (Pt 1), 23-34 (2002)
   PUBMED   12023904
  REMARK    GeneRIF: Role of PITPNB- not required for sphingomyelin trafficking
REFERENCE   7  (bases 1 to 2984)
  AUTHORS   Yoder,M.D., Thomas,L.M., Tremblay,J.M., Oliver,R.L., Yarbrough,L.R.
            and Helmkamp,G.M. Jr.
  TITLE     Structure of a multifunctional protein. Mammalian
            phosphatidylinositol transfer protein complexed with
            phosphatidylcholine
  JOURNAL   J Biol Chem 276 (12), 9246-9252 (2001)
   PUBMED   11104777
REFERENCE   8  (bases 1 to 2984)
  AUTHORS   Fullwood,Y., dos Santos,M. and Hsuan,J.J.
  TITLE     Cloning and characterization of a novel human phosphatidylinositol
            transfer protein, rdgBbeta
  JOURNAL   J Biol Chem 274 (44), 31553-31558 (1999)
   PUBMED   10531358
REFERENCE   9  (bases 1 to 2984)
  AUTHORS   Tanaka,S., Yamashita,S. and Hosaka,K.
  TITLE     Cloning and expression of human cDNA encoding phosphatidylinositol
            transfer protein beta
  JOURNAL   Biochim Biophys Acta 1259 (3), 199-202 (1995)
   PUBMED   8541325
REFERENCE   10 (bases 1 to 2984)
  AUTHORS   Wirtz,K.W.
  TITLE     Phospholipid transfer proteins
  JOURNAL   Annu Rev Biochem 60, 73-99 (1991)
   PUBMED   1883207
  REMARK    Review article
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL031591.19, DC313909.1,
            AK302367.1, BC018704.1 and BQ774593.1.
            
            On Aug 13, 2020 this sequence version replaced NM_001284278.1.
            
            Summary: This gene encodes a cytoplasmic protein that catalyzes the
            transfer of phosphatidylinositol and phosphatidylcholine between
            membranes. This transfer activity is required for COPI
            complex-mediated retrograde transport from the Golgi apparatus to
            the endoplasmic reticulum. Alternative splicing of this gene
            results in multiple transcript variants. [provided by RefSeq, Sep
            2013].
            
            Transcript Variant: This variant (sp3) uses an alternate 5'
            terminal exon, and it thus differs in the 5' UTR and 5' coding
            region, compared to variant sp1. The encoded isoform (3) has a
            distinct N-terminus and is 2 aa longer than isoform 1.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK302367.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-42                AL031591.19        147924-147965       c
            43-57               DC313909.1         1-15
            58-1074             AK302367.1         2-1018
            1075-2981           BC018704.1         979-2885
            2982-2984           BQ774593.1         18-20               c
FEATURES             Location/Qualifiers
     source          1..2984
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="22"
                     /map="22q12.1"
     gene            1..2984
                     /gene="PITPNB"
                     /gene_synonym="PI-TP-beta; PtdInsTP; VIB1B"
                     /note="phosphatidylinositol transfer protein beta"
                     /db_xref="GeneID:23760"
                     /db_xref="HGNC:HGNC:9002"
                     /db_xref="MIM:606876"
     exon            1..155
                     /gene="PITPNB"
                     /gene_synonym="PI-TP-beta; PtdInsTP; VIB1B"
                     /inference="alignment:Splign:2.1.0"
     CDS             130..951
                     /gene="PITPNB"
                     /gene_synonym="PI-TP-beta; PtdInsTP; VIB1B"
                     /note="isoform 3 is encoded by transcript variant sp3;
                     phosphotidylinositol transfer protein, beta; PtdIns
                     transfer protein beta"
                     /codon_start=1
                     /product="phosphatidylinositol transfer protein beta
                     isoform isoform 3"
                     /protein_id="NP_001271207.1"
                     /db_xref="CCDS:CCDS63432.1"
                     /db_xref="GeneID:23760"
                     /db_xref="HGNC:HGNC:9002"
                     /db_xref="MIM:606876"
                     /translation="MGDLLMEKCRVVLPCSVQEYQVGQLYSVAEASKNETGGGEGIEV
                     LKNEPYEKDGEKGQYTHKIYHLKSKVPAFVRMIAPEGSLVFHEKAWNAYPYCRTIVTN
                     EYMKDDFFIKIETWHKPDLGTLENVHGLDPNTWKTVEIVHIDIADRSQVEPADYKADE
                     DPALFQSVKTKRGPLGPNWKKELANSPDCPQMCAYKLVTIKFKWWGLQSKVENFIQKQ
                     EKRIFTNFHRQLFCWIDKWIDLTMEDIRRMEDETQKELETMRKRGSVRGTSAADV"
     exon            156..186
                     /gene="PITPNB"
                     /gene_synonym="PI-TP-beta; PtdInsTP; VIB1B"
                     /inference="alignment:Splign:2.1.0"
     exon            187..332
                     /gene="PITPNB"
                     /gene_synonym="PI-TP-beta; PtdInsTP; VIB1B"
                     /inference="alignment:Splign:2.1.0"
     exon            333..424
                     /gene="PITPNB"
                     /gene_synonym="PI-TP-beta; PtdInsTP; VIB1B"
                     /inference="alignment:Splign:2.1.0"
     exon            425..432
                     /gene="PITPNB"
                     /gene_synonym="PI-TP-beta; PtdInsTP; VIB1B"
                     /inference="alignment:Splign:2.1.0"
     exon            433..507
                     /gene="PITPNB"
                     /gene_synonym="PI-TP-beta; PtdInsTP; VIB1B"
                     /inference="alignment:Splign:2.1.0"
     exon            508..591
                     /gene="PITPNB"
                     /gene_synonym="PI-TP-beta; PtdInsTP; VIB1B"
                     /inference="alignment:Splign:2.1.0"
     exon            592..669
                     /gene="PITPNB"
                     /gene_synonym="PI-TP-beta; PtdInsTP; VIB1B"
                     /inference="alignment:Splign:2.1.0"
     exon            670..780
                     /gene="PITPNB"
                     /gene_synonym="PI-TP-beta; PtdInsTP; VIB1B"
                     /inference="alignment:Splign:2.1.0"
     exon            781..903
                     /gene="PITPNB"
                     /gene_synonym="PI-TP-beta; PtdInsTP; VIB1B"
                     /inference="alignment:Splign:2.1.0"
     exon            904..989
                     /gene="PITPNB"
                     /gene_synonym="PI-TP-beta; PtdInsTP; VIB1B"
                     /inference="alignment:Splign:2.1.0"
     exon            990..2984
                     /gene="PITPNB"
                     /gene_synonym="PI-TP-beta; PtdInsTP; VIB1B"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2961..2966
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PITPNB"
                     /gene_synonym="PI-TP-beta; PtdInsTP; VIB1B"
                     /note="hexamer: AATAAA"
     polyA_site      2984
                     /gene="PITPNB"
                     /gene_synonym="PI-TP-beta; PtdInsTP; VIB1B"
                     /note="major polyA site"
ORIGIN      
        1 gtgagaggcg gtagcggcgg cggcggcggt ggtatcggcg gcagctgtga gggggttccg
       61 ggaagatggt gctgatcaag gaattgtgag tgggtctgtg ggcgcgagcg aggccgtggg
      121 acggcagtga tgggagattt gttgatggag aagtgccgtg tggttttgcc atgttctgtt
      181 caggagtatc aggttgggca gctttactct gttgcagaag ctagtaagaa tgagactggt
      241 ggtggagaag gaattgaagt cttaaagaat gaaccttatg agaaggatgg agaaaaggga
      301 cagtatacgc acaaaattta tcacctaaag agcaaagtgc ctgcattcgt gaggatgatt
      361 gctcccgagg gctccttggt gtttcatgag aaagcctgga atgcgtaccc ctactgtaga
      421 acaattgtaa cgaatgaata tatgaaagat gatttcttca ttaaaatcga aacatggcac
      481 aaaccagact tgggaacatt agaaaatgta catggtttag atccaaacac atggaaaact
      541 gttgaaattg tccatataga tattgcagat agaagtcaag ttgaaccagc agactacaaa
      601 gctgatgaag acccagcatt attccagtca gtcaagacca agagaggccc tttgggaccc
      661 aactggaaga aggagctggc aaacagccct gactgtcccc agatgtgtgc ctataagctg
      721 gtgaccatca aattcaagtg gtggggactg caaagcaaag tagaaaactt cattcaaaag
      781 caagaaaaac ggatatttac aaacttccat cgccagcttt tttgttggat tgacaagtgg
      841 atcgatctca cgatggaaga cattaggaga atggaagacg agactcagaa agaactagaa
      901 acaatgcgta agaggggttc cgttcgaggc acgtcggctg ctgatgtcta gatgagtccc
      961 ctgtagggtc agagacaatg tcaaactgtt tacgtaatca aggtcaagtg aggggaacaa
     1021 gcgcagccag tgatgagtga agaagaatct gaccagtatc ttgcagtgtt gacgtttccc
     1081 agatgtgtgc ttgtgatgat acacacacat gcacaggttc tcaaccacgt gtgtatatat
     1141 gtatgtgtgc atatgtctgt agctgtatat aaagcgcatg tagagctaca gatccagata
     1201 cacacacttg tgtatatatg tacatacaga catactgaag ggattagtac aatttctcca
     1261 aagtactgta cctatcttca gcaagaatgc aaaagaaaat attttcaata tatatacctg
     1321 gaacagattt taataattat cagagtaata ccattaatgg acaaattgac tgcaatgtaa
     1381 tactagctgg tatgtttcat aaatgtcaag ctgtggacca acatatatag ccttttatta
     1441 tttttctctt cttttaagtc agtctgttat aaattttttt ttagtcccat aagcagtaga
     1501 ctcccacaga aaatttcttc aaaatttttt ggtgttccaa tgaatctggg atgtaaactc
     1561 tgaatgtatt tataactatt tatttctgga tggtcattat cttgtagcca aatttgacaa
     1621 tataaagtaa ggagcaaagt tacaggccag tttttacttg tttgccctga gggaaaaatc
     1681 cttttaaaaa aaatttctgg tttttattgg atttttgtat tttaaatttc aaatattttt
     1741 ctacatcaaa cctagcaaaa atggagatga cggtttctga tttataataa atactagaca
     1801 gttttcaggc tcctgttaga caaacacatt gatgaagaaa ttagtcttaa taggattgta
     1861 ggctgtgtag aaaagttgga aatatagcac ttcatggagt cttgttttga agatgacagt
     1921 tttctgtaac tacagcttgg aaactatgca aatggtctag attcctcaga gctcacatga
     1981 taggatatag ttagtgatga cattttgctc ttcttgtggg aacacacact tcaaggagga
     2041 gatagtgact ttgagatagg aacagtttaa gatgcagtgt gagtctggcc tgcgtgcggt
     2101 gaggaggccc cgccaagaga ctggtggaca tctgactgtg ggatgtgctc tcaagtagga
     2161 cgtcatcagg acagattctg aataggcatc atgagagtgc tggtcagaaa cggctgccac
     2221 tttttttaat ttaattttat tttttattta aaggaaggaa caatagctag gtaagatttt
     2281 tatcagcttt ctctgtctga atccagtttt tcctctgtca gtcctggaag cttgaataga
     2341 attatattgt tgaagccttc aggtcacaaa ctgtcttttg taacctcctg tccctcctaa
     2401 aacacgccaa cccctgcagt caaatcacat tagtaatctg atttgctgac agtcctgccc
     2461 tgcctgctcc tcgttttccc acatgtcctg catccctccc ccactggagt gatttcagtg
     2521 aatcagacaa ggaaggatgt gtaggatcac tactgcattg caataccctg ttatcctcag
     2581 caacaaaacc cacatttcat acatcctttg tgtactcagg ataaagactg atgtttactc
     2641 tctgggcact gttgtaagat aggttttgtc agagcataat cattgtctgc aaagtgtttg
     2701 gtgcgaggaa gattattgct aattttgtga aataaagagt ctagccctct ccttttaatg
     2761 aacttaactc tcgctggcat ctgtagtatc attgggagct taggcgcaca tggaaatgag
     2821 agcccggcgc atggatttta atgtttttct aacaactgtg gagatttgag ggaatgtgtg
     2881 gtgaatgtaa aatacctagt ttacttgcca gtctcttgtg taaattacag taaaacaaag
     2941 taaatgaaat ttaaacaaaa aataaatttg atcacaaaat gcca
//
